A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275287



Internal ID1507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80119020..80132742hg38UCSC Ensembl
Outerchr18:80118818..80133560hg38UCSC Ensembl
Innerchr18:77876903..77890625hg19UCSC Ensembl
Outerchr18:77876701..77891443hg19UCSC Ensembl
Innerchr18:75977894..75991616hg18UCSC Ensembl
Outerchr18:75977692..75992434hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3814743
hg1914743
hg1814743
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585492, essv2586121
Samples
Known GenesADNP2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275287
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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